Associated Papers
Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.
Bertucci F et al.
Journal of Translational Medicine, 2024
39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2
Mutational landscape of inflammatory breast cancer.
Bertucci F et al.
Journal of Translational Medicine, 2024
38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM2_ESM.xlsx › Table_S2
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S13_complex_alleles.xlsx › Complex_alleles_per_Study
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.
Lee SH et al.
Cancers, 2020
32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K et al.
The British Journal of Ophthalmology, 2019
29925512 (PubMed )
Supplement: NIHMS1029613-supplement-Supplemental_Table_2.pdf
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M et al.
International Journal of Molecular Sciences, 2018
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